يعرض 1 - 10 نتائج من 85 نتيجة بحث عن '"Marshall–Smith syndrome"', وقت الاستعلام: 1.11s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Bilateral proptosis in Marshall-Smith syndrome

    المؤلفون: Deepsekhar Das, Divya Chauhan, Sahil Agrawal, Mandeep Singh Bajaj

    المصدر: Kerala Journal of Ophthalmology, Vol 35, Iss 1, Pp 17-19 (2023)

    مصطلحات موضوعية: craniofacial dysmorphism, marshall-smith syndrome, proptosis, Ophthalmology, RE1-994

    وصف الملف: electronic resource

    العلاقة: http://www.kjophthal.com/article.asp?issn=0976-6677;year=2023;volume=35;issue=1;spage=17;epage=19;aulast=DasTest; https://doaj.org/toc/0976-6677Test

    الوصول الحر: https://doaj.org/article/31873d661987466eb3da56426054c2d1Test

    View record in DOAJ

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  2. 2
    دورية أكاديمية
    Successful respiratory management of a Marshall-Smith syndrome patient with a tracheo-innominate artery fistula

    المؤلفون: Satoko Noguchi, Junichi Saito, Jun Kawaguchi, Tetsuya Kushikata, Kazuyoshi Hirota

    المصدر: JA Clinical Reports, Vol 6, Iss 1, Pp 1-4 (2020)

    مصطلحات موضوعية: Marshall-Smith syndrome, Tracheo-innominate artery fistula, Difficult airway management, Anesthesiology, RD78.3-87.3, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9

    وصف الملف: electronic resource

    العلاقة: http://link.springer.com/article/10.1186/s40981-020-00343-6Test; https://doaj.org/toc/2363-9024Test

    الوصول الحر: https://doaj.org/article/7643987825e4483fb29a3eaa615843a0Test

    View record in DOAJ النص الكامل

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  3. 3
    دورية أكاديمية
    Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation.

    المؤلفون: Aggarwal, Anjali1, Nguyen, Joanne1, Rivera-Davila, Michelle2, Rodriguez-Buritica, David1 David.F.RodriguezBuritica@uth.tmc.edu

    المصدر: European Journal of Medical Genetics. Jul2017, Vol. 60 Issue 7, p391-394. 4p.

    مصطلحات موضوعية: *MARSHALL-Smith syndrome, *PATHOGENIC microorganisms, *HEART dilatation, *PRECOCIOUS puberty, *BONE cells, *PHYSIOLOGY, *DIAGNOSIS


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  4. 4
    دورية أكاديمية
    NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series.

    المؤلفون: Gurrieri, Fiorella1, Cavaliere, Maria Luigia2, Wischmeijer, Anita3,4, Mammì, Corrado5, Neri, Giovanni1, Pisanti, Maria Antonietta2, Rodella, Giulia3, Laganà, Carmelo5, Priolo, Manuela5 prioloma@libero.it

    المصدر: European Journal of Medical Genetics. Sep2015, Vol. 58 Issue 9, p488-491. 4p.

    مصطلحات موضوعية: *SOTOS' syndrome, *MARSHALL-Smith syndrome, *DIMERIZATION, *GENETIC mutation, *DNA-binding proteins


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  5. 5
    دورية أكاديمية
    Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

    المؤلفون: Mulder, P. A., Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G., Huber, I.

    المصدر: Journal of Intellectual Disability Research; Dec2020, Vol. 64 Issue 12, p956-969, 14p, 1 Diagram, 4 Charts, 3 Graphs

    مصطلحات موضوعية: ADAPTABILITY (Personality), BEHAVIOR, CHILD development, COGNITION, LEARNING strategies, X-linked genetic disorders, PEOPLE with intellectual disabilities, GENETIC mutation, PHENOTYPES, CROSS-sectional method, MARSHALL-Smith syndrome


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  6. 6
    دورية أكاديمية
    Surgical correction of severe kyphoscoliosis resulting in a neurological complication in Marshall-Smith syndrome.

    المؤلفون: Cao, Kai, Watanabe, Kota1, Hosogane, Naobumi1, Toyama, Yoshiaki1, Matsumoto, Morio1 morio@a5.keio.jp

    المصدر: Journal of Orthopaedic Science. Mar2015, Vol. 20 Issue 2, p430-433. 4p.

    مصطلحات موضوعية: *MARSHALL-Smith syndrome, *BONE diseases, *CRANIOFACIAL abnormalities, *DYSOSTOSIS, *CARTILAGE diseases


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  7. 7
    دورية أكاديمية
    Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome:phenotype comparison in two related syndromes

    المؤلفون: Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Piening, S.

    المصدر: Mulder , P A , van Balkom , I D C , Landlust , A M , Priolo , M , Menke , L A , Acero , I H , Alkuraya , F S , Arias , P , Bernardini , L , Bijlsma , E K , Cole , T , Coubes , C , Dapia , I , Davies , S , Di Donato , N , Elcioglu , N H , Fahrner , J A , Foster , A , Gonzalez , N G , Huber , I , Iascone , M , Kaiser , ....

    مصطلحات موضوعية: adaptive behaviour, cognition, Malan syndrome, Marshall-Smith syndrome, NFIXvariants, sensory processing, AUTISTIC DISORDER, SOTOS-LIKE, CHILDREN, PATTERNS, ADULTS

    وصف الملف: application/pdf

    العلاقة: https://research.rug.nl/en/publications/c823bd39-7c28-4564-aa84-37dc5e33eac4Test

    الإتاحة: https://doi.org/10.1111/jir.12787Test
    https://hdl.handle.net/11370/c823bd39-7c28-4564-aa84-37dc5e33eac4Test
    https://research.rug.nl/en/publications/c823bd39-7c28-4564-aa84-37dc5e33eac4Test
    https://pure.rug.nl/ws/files/169311508/jir.12787.pdfTest

    View record in BASE

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  8. 8
    دورية أكاديمية
    Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

    المؤلفون: ELÇİOĞLU, HURİYE NURSEL

    المساهمون: Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C.

    مصطلحات موضوعية: adaptive behaviour, cognition, Malan syndrome, Marshall-Smith syndrome, NFIXvariants, sensory processing, AUTISTIC DISORDER, SOTOS-LIKE, CHILDREN, PATTERNS, ADULTS

    وصف الملف: application/pdf

    العلاقة: JOURNAL OF INTELLECTUAL DISABILITY RESEARCH; https://hdl.handle.net/11424/243252Test; WOS:000577878400001

    الإتاحة: https://doi.org/10.1111/jir.12787Test
    https://hdl.handle.net/11424/243252Test

    View record in BASE

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  9. 9
    دورية أكاديمية
    Preoperative Evaluation of Upper Airway and Nasal Tract for Intubation in a Patient with Marshall Syndrome / 術前セファログラムおよびCT画像を用いて経鼻挿管の可否を判断したMarshall症候群患者の全身麻酔経験

    المؤلفون: Akiko NISHIMURA, Kinuko GOTO, Risa KAJIWARA, Satoshi TACHIKAWA, Takehiko IIJIMA, Yuuya KOHZUKA, 五島 衣子, 幸塚 裕也, 梶原 里紗, 立川 哲史, 西村 晶子, 飯島 毅彦

    المصدر: 日本歯科麻酔学会雑誌 / Journal of Japanese Dental Society of Anesthesiology. 2020, 48(1):13

    View record in JSTAGE

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  10. 10
    دورية أكاديمية
    Further delineation of Malan syndrome

    المؤلفون: Priolo, Manuela, Schanze, Denny, Tatton-Brown, Katrin, Mulder, Paul A., Tenorio, Jair, Kooblall, Kreepa, Acero, Inés Hernández, Alkuraya, Fowzan S., Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K., Cole, Trevor, Coubes, Christine, Dapia, Irene, Davies, Sally, Di Donato, Nataliya, Elcioglu, Nursel H., Fahrner, Jill A., Foster, Alison, González, Noelia García, Huber, Ilka, Iascone, Maria, Kaiser, Ann Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M., Mammì, Corrado, Mathijssen, Inge B., McKee, Shane, Menke, Leonie A., Mirzaa, Ghayda M., Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E., Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S., Price, Sue, Salter, Claire, Santos-Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw-Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, Van Haeringen, Arie, Van Hagen, Johanna M., Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V., Zenker, Martin, Hennekam, Raoul C.

    المصدر: Priolo , M , Schanze , D , Tatton-Brown , K , Mulder , P A , Tenorio , J , Kooblall , K , Acero , I H , Alkuraya , F S , Arias , P , Bernardini , L , Bijlsma , E K , Cole , T , Coubes , C , Dapia , I , Davies , S , Di Donato , N , Elcioglu , N H , Fahrner , J A , Foster , A , González , N G , Huber , I , Iascone , M , Kaiser , A ....

    مصطلحات موضوعية: Malan syndrome, Marshall-Smith syndrome, NFIX, phenotype, phenotype-genotype, Sotos syndrome, Weaver syndrome

    وصف الملف: application/pdf

    العلاقة: https://research-information.bris.ac.uk/en/publications/7622e94d-a81c-42c5-9253-15e497eaba88Test

    الإتاحة: https://doi.org/10.1002/humu.23563Test
    https://hdl.handle.net/1983/7622e94d-a81c-42c5-9253-15e497eaba88Test
    https://research-information.bris.ac.uk/en/publications/7622e94d-a81c-42c5-9253-15e497eaba88Test
    https://research-information.bris.ac.uk/ws/files/170739996/Priolo_et_al_2018_Human_Mutation.pdfTest
    http://www.scopus.com/inward/record.url?scp=85052512391&partnerID=8YFLogxKTest

    View record in BASE

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